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Feeding disorders of infancy are common in paediatric practice. Among rare causes of this disturbance is diabetes insipidus (DI), which is a clinical syndrome characterized by polyuria, polydypsia and dehydration with hypernatraemia.
Katarzyna Anna Banasiak +6 more
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Partial nephrogenic diabetes insipidus associated with Castleman’s disease
Background Nephrogenic diabetes insipidus (DI) secondary to a urinary tract obstruction is a rare condition. Herein, we report a case of partial nephrogenic DI due to obstructive uropathy in a patient with Castleman’s disease. Case presentation A 78-year-
Minah Kim +5 more
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Type 1 Bartter syndrome (BS), a rare autosomal recessive salt-losing tubulopathy, classically presents with hyponatremia, hypochloremia, hypokalemic alkalosis, and hyperreninemic hyperaldosteronism. We report a male patient with the atypical presentation
Huijuan Lu +3 more
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Nephrogenic diabetes insipidus associated with a new mutation in the AVPR2 gene
Diabetes insipidus (DI) is an orphan disease clinically characterized by profound thirst and the excretion of large volumes of dilute urine. Nephrogenic diabetes insipidus (NDI) is characterized by resistance to the action of antidiuretic hormone (ADH ...
Y. A. Aleynikova +4 more
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Absence of PKC-alpha attenuates lithium-induced nephrogenic diabetes insipidus.
Lithium, an effective antipsychotic, induces nephrogenic diabetes insipidus (NDI) in ∼40% of patients. The decreased capacity to concentrate urine is likely due to lithium acutely disrupting the cAMP pathway and chronically reducing urea transporter (UT ...
Jae H Sim +8 more
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Mutations detected in the AVPR2 gene (arginine vasopressin type 2 receptor) are known to cause nephrogenic diabetes insipidus (NDI). Several pharmacological chaperones (PCs) target misfolded AVPR2 proteins and rescue them from the quality control system ...
Avcu Elif Merve +2 more
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Severe lithium-induced nephrogenic diabetes insipidus: The diuresis paradox
We report a case of profound nephrogenic diabetes insipidus (NDI) in which renal resistance to antidiuretic hormone results in dilute polyuria despite normal circulating concentrations.
G S Tatz +3 more
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Differential diagnosis of diabetes insipidus syndrome on the example of clinical cases
Background. DDiagnosis of various forms of diabetes insipidus in childhood causes significant difficulties, as it is a complex multi-part process. The young age of patients often does not allow for a number of diagnostic tests, which makes it difficult ...
O. I. Krasnoperova +2 more
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A Pedigree Study of Hereditary Diabetes Insipidus Caused by X Chromosome AVPR2 Gene Mutation
Lei Li,* Yong Fan,* Guoli Du, Jing Xu, Sheng Jiang State Key Laboratory of Pathogenesis, Prevention and Treatment of High Incidence Diseases in Central Asia; Department of Endocrinology, The First Affiliated Hospital of Xinjiang Medical ...
Li L, Fan Y, Du G, Xu J, Jiang S
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Nephrogenic Diabetes Insipidus
Contains fulltext : mmubn000001_101473788.pdf (Publisher’s version ) (Open Access)
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